Canonical Allele Identifier: CA1360917124
Gene: ABHD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.43717678A= , CM000665.2:g.43717678A= GRCh38
NC_000003.11:g.43759170A= , CM000665.1:g.43759170A= GRCh37
NC_000003.10:g.43734174A= NCBI36
NG_007090.3:g.31796A=
NG_007090.5:g.31809A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000413300.2:c.268-88A=
ENST00000454293.2:c.658A= ENSP00000412014.2:p.Thr220=
ENST00000458276.7:c.774-765A= ENSP00000390849.3:n.774-765A=
ENST00000463153.2:c.8A=
ENST00000642351.1:c.658A= ENSP00000494478.1:p.Thr220=
ENST00000643140.1:c.*143A= ENSP00000495588.1:n.*143A=
ENST00000643477.1:c.*242A= ENSP00000496220.1:n.*242A=
ENST00000643500.1:c.669A= ENSP00000494735.1:p.Arg223=
ENST00000643520.1:n.947A=
ENST00000644371.2:c.781A= MANE Select ENSP00000495778.1:p.Thr261=
ENST00000646378.1:c.*831A= ENSP00000495826.1:n.*831A=
ENST00000646799.1:c.*248-765A= ENSP00000494829.1:n.*248-765A=
ENST00000649763.1:c.781A= ENSP00000497701.1:p.Thr261=
ENST00000413300.1:c.270-88A= ENSP00000392159.1:n.270-88A=
ENST00000458276.6:c.781A= ENSP00000390849.2:p.Thr261=
ENST00000463153.1:n.11A=
NM_016006.4:c.781A= NP_057090.2:p.Thr261=
XM_011533779.1:c.658A= XP_011532081.1:p.Thr220=
XM_011533780.1:c.774-765A= XP_011532082.1:n.774-765A=
XR_940447.1:n.726A=
NM_001355186.1:c.781A= NP_001342115.1:p.Thr261=
NM_001365649.1:c.658A= NP_001352578.1:p.Thr220=
NM_001365650.1:c.774-765A= NP_001352579.1:n.774-765A=
NM_016006.5:c.781A= NP_057090.2:p.Thr261=
NR_158560.1:n.792A=
NM_001355186.2:c.781A= NP_001342115.1:p.Thr261=
NM_016006.6:c.781A= MANE Select NP_057090.2:p.Thr261=